rs757975291, BRD2

N. diseases: 4
Disease: Primary physiologic amenorrhea ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary physiologic amenorrhea
CUI: C0232939
Disease: Primary physiologic amenorrhea
0.010 GeneticVariation BEFREE We found the Ala257Thr missense mutation in INHalpha gene with high statistical significance in POF (nine out of 80, 11.2%) (Fisher's exact test, P = 0.0005), primary amenorrhoea (three out of 33, 9.1%) (Fisher's exact test, P = 0.014) and secondary amenorrhoea (two out of four, 50%) (Fisher's exact test, P = 0.001) with complete absence of this mutation in controls (none out of 100). 15205401 2004